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Turner syndrome is a congenital complete or partial lack one of the female sex chromosomes affecting 1 of 2000 live born girls. The syndrome is characterized by an increased prevalence of ischemic heart disease, aortic dilation and dissection, hypertension, stroke and autoimmune diseases in general.
Our study aim is:
Turner syndrome is a congenital complete or partial lack one of the female sex chromosomes affecting 1 of 2000 live born girls. The syndrome is characterized by an increased prevalence of ischemic heart disease, aortic dilation and dissection, congenital heart defects, hypertension, stroke, ovarian failure, infertility, decreased final height and autoimmune diseases in general
Our study aim is:
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Turner syndrome | Females with Turner syndrome | ||
| Control group | age matched females acting as controls |
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| Measure | Description | Time Frame |
|---|---|---|
| Aortic dimensions | Aortic dimensions measured by MRI | Once |
| Agatston score | Coronary CT evaluation of Agatston score | Once |
| Segment involvement score | Segment involvement score (SIS) calculated as the sum of segments with one or more coronary plaques (score 0-18). | Once |
| Aortic distensibility | Aortic distensibillity as measured by MRI | Once |
| Measure | Description | Time Frame |
|---|---|---|
| 24 hour blood pressure | 24 hour blood pressure | 24 hour |
| Pulse Wave Velocity | Pulse Wave Velocity measured by applanation tonometry. |
| Measure | Description | Time Frame |
|---|---|---|
| echocardiography | echocardiography evaluating Mitral and aortic valves, left ventricular hypertrophy, diastolic and systolic function etc.. | Once |
Inclusion Criteria with respect to individuals acting as controls:
Exclusion Criteria:
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Females with Turner Syndrome previously participating in our study number 2001024 are recruited from out-patient clinics.
Controls are healthy volunteers recruited from the general population by advertisement.
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| Name | Affiliation | Role |
|---|---|---|
| Claus H Gravholt, MD | Aarhus University Hospital | Study Chair |
| Christian Trolle, MD | Aarhus University Hospital | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Department of Endocrinology and Internal medicine | Aarhus | 8000 | Denmark |
| PubMed Identifier | Type | Citation | Retractions |
|---|---|---|---|
| 36890688 | Derived | Ridder LO, Stochholm K, Mortensen KH, Andersen NH, Gravholt CH. The TGFbeta system and TIMP1 and 3 genotypes in Turner syndrome-Relation with aortic congenital malformations. Clin Endocrinol (Oxf). 2023 Dec;99(6):545-551. doi: 10.1111/cen.14907. Epub 2023 Mar 15. | |
| 35302622 | Derived | Viuff MH, Just J, Brun S, Dam TV, Hansen M, Melgaard L, Hougaard DM, Lappe M, Gravholt CH. Women With Turner Syndrome Are Both Estrogen and Androgen Deficient: The Impact of Hormone Replacement Therapy. J Clin Endocrinol Metab. 2022 Jun 16;107(7):1983-1993. doi: 10.1210/clinem/dgac167. |
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Blood Serum
| Once |
| Augmentation index | Augmentation index measured by applanation tonometry. | Once |
| Central blood pressure | Central blood pressure measured by applanation tonometry. | Once |
| 30541571 | Derived | Wen J, Trolle C, Viuff MH, Ringgaard S, Laugesen E, Gutmark EJ, Subramaniam DR, Backeljauw P, Gutmark-Little I, Andersen NH, Mortensen KH, Gravholt CH. Impaired aortic distensibility and elevated central blood pressure in Turner Syndrome: a cardiovascular magnetic resonance study. J Cardiovasc Magn Reson. 2018 Dec 13;20(1):80. doi: 10.1186/s12968-018-0497-0. |
| 28231838 | Derived | Subramaniam DR, Stoddard WA, Mortensen KH, Ringgaard S, Trolle C, Gravholt CH, Gutmark EJ, Mylavarapu G, Backeljauw PF, Gutmark-Little I. Continuous measurement of aortic dimensions in Turner syndrome: a cardiovascular magnetic resonance study. J Cardiovasc Magn Reson. 2017 Feb 24;19(1):20. doi: 10.1186/s12968-017-0336-8. |
| ID | Term |
|---|---|
| D014424 | Turner Syndrome |
| D001014 | Aortic Aneurysm |
| D017202 | Myocardial Ischemia |
| D006973 | Hypertension |
| D006330 | Heart Defects, Congenital |
| ID | Term |
|---|---|
| D006059 | Gonadal Dysgenesis |
| D012734 | Disorders of Sex Development |
| D014564 | Urogenital Abnormalities |
| D052776 | Female Urogenital Diseases |
| D005261 | Female Urogenital Diseases and Pregnancy Complications |
| D000091642 | Urogenital Diseases |
| D058533 | Sex Chromosome Disorders of Sex Development |
| D052801 | Male Urogenital Diseases |
| D018376 | Cardiovascular Abnormalities |
| D002318 | Cardiovascular Diseases |
| D006331 | Heart Diseases |
| D000013 | Congenital Abnormalities |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| D025064 | Sex Chromosome Disorders |
| D025063 | Chromosome Disorders |
| D030342 | Genetic Diseases, Inborn |
| D006058 | Gonadal Disorders |
| D004700 | Endocrine System Diseases |
| D000783 | Aneurysm |
| D014652 | Vascular Diseases |
| D001018 | Aortic Diseases |
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